Variant report

Variant	rs12185024
Chromosome Location	chr14:31708029-31708030
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31697845..31699989-chr14:31707051..31710155,3	MCF-7	breast:
2	chr14:31705909..31709311-chr14:31711142..31713834,3	K562	blood:
3	chr14:31701418..31703156-chr14:31707210..31709221,2	K562	blood:
4	chr14:31705909..31710425-chr14:31710546..31713834,4	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10135901	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10137205	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10872851	0.81[CEU][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap]
rs11156659	0.89[EUR][1000 genomes]
rs12883671	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12883762	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12889534	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12893153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893469	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12895556	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12897427	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12898184	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2093616	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2378833	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2378849	0.81[AMR][1000 genomes]
rs4981829	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4981830	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55633656	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7157977	0.81[GIH][hapmap];0.82[MEX][hapmap]
rs7161558	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72672613	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8014203	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8017888	0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12185024	PRKD1	cis	parietal	SCAN
rs12185024	HEATR5A	cis	cerebellum	SCAN
rs12185024	RP11-176H8.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31701800-31708600	Weak transcription	K562	blood
2	chr14:31703000-31710200	Weak transcription	Fetal Heart	heart
3	chr14:31707000-31708600	Weak transcription	GM12878-XiMat	blood
4	chr14:31707000-31708800	Weak transcription	HepG2	liver
5	chr14:31707800-31708600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:31707800-31709000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:31707800-31710600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:31707800-31710600	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:31707800-31710600	Weak transcription	Stomach Mucosa	stomach
10	chr14:31707800-31711000	Weak transcription	Esophagus	oesophagus
11	chr14:31707800-31711000	Weak transcription	Spleen	Spleen
12	chr14:31707800-31712800	Weak transcription	Lung	lung
13	chr14:31707800-31713400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:31707800-31730800	Weak transcription	Pancreas	Pancrea

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